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rs1060502278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502278(G;T)
Make rs1060502278(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95458207
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502278
dbSNP (classic)rs1060502278
ClinGenrs1060502278
ebirs1060502278
HLIrs1060502278
Exacrs1060502278
Gnomadrs1060502278
Varsomers1060502278
LitVarrs1060502278
Maprs1060502278
PheGenIrs1060502278
Biobankrs1060502278
1000 genomesrs1060502278
hgdprs1060502278
ensemblrs1060502278
geneviewrs1060502278
scholarrs1060502278
googlers1060502278
pharmgkbrs1060502278
gwascentralrs1060502278
openSNPrs1060502278
23andMers1060502278
23andMe allrs1060502278
SNPshotrs1060502278
SNPdbers1060502278
MSV3drs1060502278
GWAS Ctlgrs1060502278
Max Magnitude0
ClinVar
Risk rs1060502278(T;T)
Alt rs1060502278(T;T)
Reference Rs1060502278(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98220489C>A
CLNSRC
CLNACC RCV000461636.1,